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IYD iodotyrosine deiodinase [ Homo sapiens (human) ]

Gene ID: 389434, updated on 2-Nov-2024

Summary

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Official Symbol
IYDprovided by HGNC
Official Full Name
iodotyrosine deiodinaseprovided by HGNC
Primary source
HGNC:HGNC:21071
See related
Ensembl:ENSG00000009765 MIM:612025; AllianceGenome:HGNC:21071
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TDH4; IYD-1; DEHAL1; C6orf71
Summary
This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Expression
Restricted expression toward thyroid (RPKM 256.4) See more
Orthologs
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Genomic context

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See IYD in Genome Data Viewer
Location:
6q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150369012..150405969)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (151569713..151606528)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150690148..150727105)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378054 Neighboring gene CRISPRi-validated cis-regulatory element chr6.5240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150594726-150595226 Neighboring gene Sharpr-MPRA regulatory region 1657 Neighboring gene RNA, U4 small nuclear 7, pseudogene Neighboring gene MPRA-validated peak6214 silencer Neighboring gene Sharpr-MPRA regulatory region 14815 Neighboring gene signal sequence receptor subunit 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150739968-150740536 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:150740537-150741103 Neighboring gene alpha-methylacyl-CoA racemase pseudogene Neighboring gene uncharacterized LOC124901429

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
    Title: Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
  2. Redox control of iodotyrosine deiodinase.
    Title: Redox control of iodotyrosine deiodinase.
  3. The rate-limiting processes that contribute to the ability of flavin to promote reductive dehalogenation in human IYD.
    Title: Rapid kinetics of dehalogenation promoted by iodotyrosine deiodinase from human thyroid.
  4. A switch between one- and two-electron chemistry of iodotyrosine deiodinase is controlled by substrate.
    Title: A switch between one- and two-electron chemistry of the human flavoprotein iodotyrosine deiodinase is controlled by substrate.
  5. Iodotyrosine deiodinase defect identified via genome-wide approach.
    Title: Iodotyrosine deiodinase defect identified via genome-wide approach.
  6. high activity of human saliva peroxidase with iodide as a substrate may play a crucial role in the bioavailability and metabolism of biologically active iodide.
    Title: [Biochemical characteristics of iodperoxidase activity of human saliva].
  7. Mutations in DEHAL1 leads to hypothyroidism, goiter and mental retardation (Review)
    Title: Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
  8. This study describes a functional mutation within IYD, demonstrating the molecular basis of the iodine wasting form of congenital hypothyroidism
    Title: Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
  9. the cytoplasmic tail of DEHAL1 could play a role in the stability of the protein
    Title: Cloning and characterization of a novel isoform of iodotyrosine dehalogenase 1 (DEHAL1) DEHAL1C from human thyroid: comparisons with DEHAL1 and DEHAL1B.
  10. homozygous mutations in DEHAL1 appear to cause human iodotyrosine deiodinase deficiency, leading to hereditary hypothyroidism and goiter
    Title: Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Iodotyrosine deiodination defect
MedGen: C0342195 OMIM: 274800 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
EBI GWAS Catalog
Genome-wide association study of proneness to anger.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FMN binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables iodotyrosine deiodinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables iodotyrosine deiodinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in thyroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in thyroid hormone metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tyrosine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tyrosine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
iodotyrosine deiodinase 1
Names
iodotyrosine dehalogenase 1
NP_001158166.1
NP_001158167.1
NP_001305424.1
NP_981932.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016007.2 RefSeqGene

    Range
    5121..42078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164694.2 → NP_001158166.1  iodotyrosine deiodinase 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as B).
    Source sequence(s)
    AI823392, AL031010, AY259177
    Consensus CDS
    CCDS55067.1
    UniProtKB/TrEMBL
    C9JXJ9
    Related
    ENSP00000229447.5, ENST00000229447.9
    Conserved Domains (1) summary
    cd02144
    Location:93 → 229
    iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

  2. NM_001164695.2 → NP_001158167.1  iodotyrosine deiodinase 1 isoform 3

    See identical proteins and their annotated locations for NP_001158167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region compared to variant 1. The encoded isoform (3, also known as E) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI823392, AL031010, AY259176, AY957659
    Consensus CDS
    CCDS55066.1
    UniProtKB/TrEMBL
    C9JXJ9
    Related
    ENSP00000376085.2, ENST00000392256.6
    Conserved Domains (1) summary
    cd02144
    Location:93 → 232
    iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

  3. NM_001318495.2 → NP_001305424.1  iodotyrosine deiodinase 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains multiple differences in the 5' and 3' coding regions compared to variant 1. The encoded isoform (4, also known as G) has distinct N- and C-termini compared to isoform 1.
    Source sequence(s)
    AI823392, AL031010, AY259176, AY957662
    UniProtKB/Swiss-Prot
    Q6PHW0
    UniProtKB/TrEMBL
    Q2VPV9
    Conserved Domains (1) summary
    cd02144
    Location:42 → 203
    iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

  4. NM_203395.3 → NP_981932.1  iodotyrosine deiodinase 1 isoform 2

    See identical proteins and their annotated locations for NP_981932.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2, also known as A) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI823392, AL031010, AY259176
    Consensus CDS
    CCDS5227.1
    UniProtKB/Swiss-Prot
    C9JFW2, Q2VPW0, Q2VPW1, Q5F1L5, Q5F1L6, Q5THM4, Q6PHW0, Q6ZP69, Q7Z7D7, Q7Z7D8
    Related
    ENSP00000343763.4, ENST00000344419.8
    Conserved Domains (1) summary
    cd02144
    Location:93 → 285
    iodotyrosine_dehalogenase; Iodotyrosine dehalogenase catalyzes the removal of iodine from the 3, 5 positions of L-tyosine in thyroid, liver and kidney, using NADPH as electron donor. This enzyme is a homolog of the nitroreductase family. These enzymes are usually homodimers.

RNA

  1. NR_134655.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI823392, AL031010, AY259176, AY957660

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    150369012..150405969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    151569713..151606528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PHW0.2 GenPept UniProtKB/Swiss-Prot:Q6PHW0

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